Product Details

Primer Sequences
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Primer Chromosome Location
Chr.14: 67359566-67360074 on Build GRCh38
Format
Each primer will be delivered in a single tube, dried-down
Quick Reference Guide
Primer Designer™ Tool Quick Reference
Ampliseq ID's

Gene Details

Gene Symbol
ATP6V1D
Entrez Gene ID
51382
Gene Name
ATPase H+ transporting V1 subunit D
Gene Aliases
ATP6M, VATD, VMA8
UniGene
Hs.272630
Gene Chromosome Location
Chr.14: 67337864-67360003 on Build GRCh38
Transcripts
NM_015994.3 XM_017020925.1

Gene Symbol
GPHN
Entrez Gene ID
10243
Gene Name
gephyrin
Gene Aliases
GEPH, GPH, GPHRYN, HKPX1, MOCODC
UniGene
Hs.208765
Gene Chromosome Location
Chr.14: 66507407-67735831 on Build GRCh38
Transcripts
NM_015994.3 XM_017020925.1

Cosmic Detail

Cosmic ID Mutation AA Transcript Location
4664484 c.3G>A p.M1I Chr.14: 67359696-67359696 on Build GRCh38
6235196 c.41+1G>A p.? Chr.14: 67359657-67359657 on Build GRCh38
93918 c.19A>G p.I7V Chr.14: 67359680-67359680 on Build GRCh38
3386641 c.16C>T p.R6* Chr.14: 67359683-67359683 on Build GRCh38
3667664 c.25A>G p.I9V Chr.14: 67359674-67359674 on Build GRCh38
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SNP Detail

SNP ID Chromosome Location
rs750549587 Chr.14: 67359744-67359744 on Build GRCh38
rs374956176 Chr.14: 67359733-67359733 on Build GRCh38
rs1002399507 Chr.14: 67359891-67359891 on Build GRCh38
rs912892655 Chr.14: 67359725-67359725 on Build GRCh38
rs887225755 Chr.14: 67359593-67359593 on Build GRCh38
rs992935967 Chr.14: 67359706-67359706 on Build GRCh38
rs923782336 Chr.14: 67359933-67359933 on Build GRCh38
rs761094562 Chr.14: 67359655-67359655 on Build GRCh38
rs978136509 Chr.14: 67359904-67359904 on Build GRCh38
rs747759840 Chr.14: 67359707-67359707 on Build GRCh38
rs367946580 Chr.14: 67359736-67359736 on Build GRCh38
rs187631622 Chr.14: 67359613-67359613 on Build GRCh38
rs772712634 Chr.14: 67359634-67359634 on Build GRCh38
rs1015724212 Chr.14: 67359868-67359868 on Build GRCh38
rs776176223 Chr.14: 67359720-67359720 on Build GRCh38
rs754025532 Chr.14: 67359667-67359667 on Build GRCh38
rs922459118 Chr.14: 67359992-67359992 on Build GRCh38
rs777334051 Chr.14: 67360018-67360018 on Build GRCh38
rs936580211 Chr.14: 67359776-67359776 on Build GRCh38
rs769484837 Chr.14: 67359711-67359711 on Build GRCh38
rs772748904 Chr.14: 67359717-67359717 on Build GRCh38
rs574058689 Chr.14: 67359642-67359642 on Build GRCh38
rs377758847 Chr.14: 67359651-67359651 on Build GRCh38
rs961499249 Chr.14: 67359876-67359876 on Build GRCh38
rs569111376 Chr.14: 67359750-67359750 on Build GRCh38
rs995735484 Chr.14: 67359877-67359877 on Build GRCh38
rs972002829 Chr.14: 67359679-67359679 on Build GRCh38
rs776114651 Chr.14: 67359619-67359619 on Build GRCh38
rs779942856 Chr.14: 67359702-67359702 on Build GRCh38
rs912634420 Chr.14: 67359752-67359752 on Build GRCh38
rs1005648588 Chr.14: 67359878-67359878 on Build GRCh38
rs548166197 Chr.14: 67359838-67359838 on Build GRCh38
rs1046069094 Chr.14: 67360008-67360008 on Build GRCh38
rs750494530 Chr.14: 67359692-67359692 on Build GRCh38
rs1027172983 Chr.14: 67359880-67359880 on Build GRCh38
rs758386046 Chr.14: 67359699-67359699 on Build GRCh38
rs758260898 Chr.14: 67359610-67359610 on Build GRCh38
rs144132981 Chr.14: 67359888-67359888 on Build GRCh38
rs541557012 Chr.14: 67359804-67359804 on Build GRCh38
rs528150254 Chr.14: 67359590-67359590 on Build GRCh38
rs1053674656 Chr.14: 67359791-67359791 on Build GRCh38
rs765482344 Chr.14: 67359743-67359743 on Build GRCh38
rs765222958 Chr.14: 67359775-67359775 on Build GRCh38
rs776985593 Chr.14: 67359734-67359734 on Build GRCh38
rs768401580 Chr.14: 67359616-67359616 on Build GRCh38
rs538415078 Chr.14: 67359957-67359957 on Build GRCh38
rs376154436 Chr.14: 67359637-67359637 on Build GRCh38
rs1005638650 Chr.14: 67359603-67359603 on Build GRCh38
rs762005643 Chr.14: 67359740-67359740 on Build GRCh38
rs761211295 Chr.14: 67359729-67359729 on Build GRCh38
rs550635180 Chr.14: 67359745-67359745 on Build GRCh38
rs745814348 Chr.14: 67359607-67359607 on Build GRCh38
rs1046942763 Chr.14: 67360016-67360017 on Build GRCh38
rs190916934 Chr.14: 67359765-67359765 on Build GRCh38
rs764483486 Chr.14: 67359663-67359663 on Build GRCh38
rs751222844 Chr.14: 67360049-67360049 on Build GRCh38
rs965493200 Chr.14: 67359903-67359903 on Build GRCh38
rs146010769 Chr.14: 67360040-67360040 on Build GRCh38
rs532450036 Chr.14: 67359654-67359654 on Build GRCh38
rs201002082 Chr.14: 67359640-67359640 on Build GRCh38
rs772917060 Chr.14: 67359713-67359713 on Build GRCh38
rs894779124 Chr.14: 67359589-67359589 on Build GRCh38
rs555480612 Chr.14: 67359635-67359635 on Build GRCh38
rs371366480 Chr.14: 67359632-67359632 on Build GRCh38
rs11539355 Chr.14: 67359728-67359728 on Build GRCh38
rs867805449 Chr.14: 67359754-67359754 on Build GRCh38
rs759546423 Chr.14: 67359772-67359772 on Build GRCh38
rs974265266 Chr.14: 67359730-67359730 on Build GRCh38
rs765234254 Chr.14: 67359683-67359683 on Build GRCh38
rs905310042 Chr.14: 67360046-67360046 on Build GRCh38
rs942513438 Chr.14: 67359786-67359786 on Build GRCh38
rs144445579 Chr.14: 67359669-67359669 on Build GRCh38
rs961287350 Chr.14: 67359906-67359906 on Build GRCh38
rs534002135 Chr.14: 67359900-67359900 on Build GRCh38
rs570994800 Chr.14: 67359945-67359945 on Build GRCh38
rs1053732436 Chr.14: 67359951-67359951 on Build GRCh38
rs941321228 Chr.14: 67360033-67360033 on Build GRCh38
rs776529513 Chr.14: 67359942-67359943 on Build GRCh38
rs985969902 Chr.14: 67359735-67359735 on Build GRCh38
rs887078765 Chr.14: 67359848-67359849 on Build GRCh38
rs769203172 Chr.14: 67359633-67359633 on Build GRCh38
rs916494957 Chr.14: 67359964-67359964 on Build GRCh38
rs1005001969 Chr.14: 67359846-67359846 on Build GRCh38
rs960972603 Chr.14: 67359672-67359672 on Build GRCh38
rs1011902761 Chr.14: 67359827-67359827 on Build GRCh38
rs370286919 Chr.14: 67359705-67359705 on Build GRCh38
rs746846046 Chr.14: 67359704-67359704 on Build GRCh38
rs868709930 Chr.14: 67359882-67359882 on Build GRCh38
rs963751482 Chr.14: 67359962-67359962 on Build GRCh38
rs1038436406 Chr.14: 67359887-67359887 on Build GRCh38
rs906279965 Chr.14: 67359845-67359845 on Build GRCh38
rs1047545765 Chr.14: 67359839-67359839 on Build GRCh38
rs947751263 Chr.14: 67360006-67360006 on Build GRCh38
rs1003037211 Chr.14: 67359690-67359690 on Build GRCh38
rs985469074 Chr.14: 67359886-67359886 on Build GRCh38
rs936465938 Chr.14: 67359944-67359944 on Build GRCh38
rs922540301 Chr.14: 67359798-67359798 on Build GRCh38
rs559122665 Chr.14: 67359936-67359936 on Build GRCh38
rs779889854 Chr.14: 67359611-67359611 on Build GRCh38

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